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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple mitochondrial dysfunctions syndrome
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Accession:DOID:0070330 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment. (DO)
Synonyms:exact_synonym: MMDS;   fatal multiple mitochondrial dysfunction syndrome;   multiple mitochondrial dysfunctions syndromes
 primary_id: MESH:C565304
 alt_id: RDO:0013980
 xref: GARD:12632;   OMIM:PS605711;   ORDO:289573
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multiple mitochondrial dysfunctions syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:11554173
G Isca1 iron-sulfur cluster assembly 1 JBrowse link 17 5,281,727 5,294,386 RGD:8554872
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:11554173
RGD:8554872
G Nfu1 NFU1 iron-sulfur cluster scaffold JBrowse link 4 118,814,284 118,834,955 RGD:8554872
RGD:11554173
multiple mitochondrial dysfunctions syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfu1 NFU1 iron-sulfur cluster scaffold JBrowse link 4 118,814,284 118,834,955 RGD:8554872
RGD:7240710
multiple mitochondrial dysfunctions syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bola3 bolA family member 3 JBrowse link 4 115,046,693 115,056,140 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iba57 iron-sulfur cluster assembly factor IBA57 JBrowse link 10 45,506,124 45,514,909 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca2 iron-sulfur cluster assembly 2 JBrowse link 6 108,488,678 108,490,188 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Isca1 iron-sulfur cluster assembly 1 JBrowse link 17 5,281,727 5,294,386 RGD:7240710
RGD:8554872
multiple mitochondrial dysfunctions syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpcb peptidase, mitochondrial processing subunit beta JBrowse link 4 9,908,838 9,921,615 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      multiple mitochondrial dysfunctions syndrome 6
        multiple mitochondrial dysfunctions syndrome 1 1
        multiple mitochondrial dysfunctions syndrome 2 1
        multiple mitochondrial dysfunctions syndrome 3 1
        multiple mitochondrial dysfunctions syndrome 4 1
        multiple mitochondrial dysfunctions syndrome 5 1
        multiple mitochondrial dysfunctions syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          inherited metabolic disorder 2179
            mitochondrial metabolism disease 324
              multiple mitochondrial dysfunctions syndrome 6
                multiple mitochondrial dysfunctions syndrome 1 1
                multiple mitochondrial dysfunctions syndrome 2 1
                multiple mitochondrial dysfunctions syndrome 3 1
                multiple mitochondrial dysfunctions syndrome 4 1
                multiple mitochondrial dysfunctions syndrome 5 1
                multiple mitochondrial dysfunctions syndrome 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.